1. Gene
  2. SRP72 - signal recognition particle 72 Gene

SRP72 - signal recognition particle 72 Gene

中文名称:信号识别粒子 72

种属: Homo sapiens

同用名: BMFF; BMFS1; HEL103

基因 ID: 6731 | 基因类型: protein coding

关于 SRP72

Cytogenetic location: 4q12 Genomic coordinates (GRCh38): 4:56,467,617-56,503,681 (from NCBI)

This gene has 9 transcripts (splice variants), 232 orthologues and is associated with 2 phenotypes. Ubiquitous expression in thyroid (RPKM 21.7), lymph node (RPKM 15.4) and 25 other tissues.

功能概要

该基因编码信号识别颗粒 (SRP) 的 72 kDa 亚基,信号识别颗粒是一种核糖核蛋白复合物,可介导分泌蛋白靶向内质网 (ER) 。 SRP 复合物由一个 7S RNA 和 6 个蛋白质亚基组成:SRP9、SRP14、SRP19、SRP54、SRP68 和 SRP72,它们以单体或异二聚体的形式与 7S RNA 结合。 SRP 至少具有 3 种与蛋白质亚基相关的不同功能:信号识别、翻译停滞和通过与对接蛋白相互作用进行的 ER 膜靶向。该基因的突变与家族性骨髓衰竭有关。已发现该基因编码不同亚型的可变剪接转录物变体。[RefSeq 提供,2012 年 6 月]

This gene encodes the 72 kDa subunit of the signal recognition particle (SRP), a ribonucleoprotein complex that mediates the targeting of secretory proteins to the endoplasmic reticulum (ER). The SRP complex consists of a 7S RNA and 6 protein subunits: SRP9, SRP14, SRP19, SRP54, SRP68, and SRP72, that are bound to the 7S RNA as monomers or heterodimers. SRP has at least 3 distinct functions that can be associated with the protein subunits: signal recognition, translational arrest, and ER membrane targeting by interaction with the docking protein. Mutations in this gene are associated with familial bone marrow failure. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]

SRP72 基因产物(2)

mRNA Protein Name
NM_001267722.2 NP_001254651.1 signal recognition particle subunit SRP72 isoform 2
NM_006947.4 NP_008878.3 signal recognition particle subunit SRP72 isoform 1
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables 7S RNA binding IMP
IMP: 通过突变表型推断
27899666 GOA
enables TPR domain binding IPI
IPI: 通过物理相互作用推断
27899666 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
16672232 GOA
contributes to ribosome binding IMP
IMP: 通过突变表型推断
27899666 GOA
enables signal recognition particle binding IPI
IPI: 通过物理相互作用推断
17254600 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in endoplasmic reticulum IDA
IDA: 通过直接分析推断
22541560 GOA
part of signal recognition particle IDA
IDA: 通过直接分析推断
27899666 GOA
part of signal recognition particle, endoplasmic reticulum targeting IDA
IDA: 通过直接分析推断
18089836 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

SRP72 蛋白结构

TPR_9

TPR_9: Tetratricopeptide repeat (20 - 65)

TPR_12

TPR_12: Tetratricopeptide repeat (177 - 256)

TPR_6

TPR_6: Tetratricopeptide repeat (344 - 370)

TPR_9

TPR_9: Tetratricopeptide repeat (415 - 480)

SRP72

SRP72: SRP72 RNA-binding domain (528 - 588)

  • 0
  • 200
  • 400
  • 600
  • 671 a.a.
蛋白主名 其他名称

signal recognition particle subunit SRP72

epididymis luminal protein 103

SRP72 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
SRP72 O76094 SRP68 Homo sapiens Q9UHB9 16672232
种属内
SRP72 O76094 SRP68 Homo sapiens Q9UHB9 35271311
种属内
SRP72 O76094 SRP68 Homo sapiens Q9UHB9 16672232
种属间: 跨种属相互作用 种属内: 同种属相互作用

SRP72 抗体

目录号 产品名 应用 反应物种
HY-P82318 SRP72 Antibody (YA2063) WB, IHC-F, IHC-P, ICC/IF Human
HY-P86296 SRP72 Antibody (YA5988) WB, IHC-P, ICC/IF, FC Human

关联疾病

疾病名称 别名
Bone Marrow Failure Syndrome 1

Autosomal Dominant Aplasia And Myelodysplasia

BMFS1

Autosomal Dominant Aplastic Anemia And Myelodysplasia

Bmff

Familial Bone Marrow Failure

Bone Marrow Failure Syndrome, Type 1

Anterior Spinal Artery Syndrome

Anterior Spinal Artery Occlusion Syndrome

Labyrinthitis

Labyrinthine Disorder

Inner Ear Inflammation

Otitis Interna

Labyrinth Hyperaemia

Aplastic Anemia

Aplastic Anemia, Susceptibility To

Anemia Aplastic

Idiopathic Aplastic Anemia

Secondary Aplastic Anemia

Idiopathic Bone Marrow Failure

Aplastic Anemia Idiopathic

AA

Anemia, Aplastic

Aplastic Anemia, Idiopathic

Erythroid Aplasia

Aa - [Aplastic Anaemia]

Haematopoietic Aplasia

Aleukia Haemorrhagica

Anaemia Due To Decreased Red Cell Production

Aplasia Bone Marrow

Aplastic Bone Marrow

Hypoplastic Anaemia Nos

Myeloid Bone Marrow Aplasia

Pancytopenia

Panhaematopenia

Hypoproliferative Anaemia

Medullary Hypoplasia

Red Blood Cells Hypoplastic Anaemia

Panmyelophthisis

Panhemocytopenia

Refractive Hypoproliferative Anaemia

Toxic Anaemia

Toxic Aplastic Anaemia

Aplastic Anaemia Due To Toxic Cause

Idiopathic Aplastic Anaemia Nos

Type 1 Diabetes Mellitus 20

Diabetes Mellitus, Insulin-Dependent, 20

IDDM20

T1D20

Insulin-Dependent Diabetes Mellitus 20

Diabetes Mellitus, Insulin-Dependent, Type 20

Shwachman-Diamond Syndrome 1

Shwachman-Diamond Syndrome

Shwachman Syndrome

Shwachman-Bodian-Diamond Syndrome

Sds

Pancreatic Insufficiency And Bone Marrow Dysfunction

Shwachman-Bodian Syndrome

SDS1

Lipomatosis Of Pancreas, Congenital

Congenital Lipomatosis Of Pancreas

Shwachman-Diamond Type Metaphyseal Dysplasia

Metaphyseal Chondrodysplasia, Shwachman Type

Shwachman-Diamond-Oski Syndrome

Immunodeficiency 21

Monocytopenia And Mycobacterial Infection Syndrome

Monomac

Gata2 Deficiency

Monocytopenia With Susceptibility To Infections

Dcml

IMD21

Dendritic Cell, Monocyte, B Lymphocyte, And Natural Killer Lymphocyte Deficiency

Monocytopenia With Susceptibility To Mycobacterial, Fungal, And Papillomavirus Infections And Myelodysplasia

Combined Immunodeficiency With Susceptibility To Mycobacterial, Viral, And Fungal Infections

Combined Immunodeficiency With Susceptibility To Mycobacterial, Viral And Fungal Infections

Dendritic Cell, Monocyte, B And Nk Lymphoid Deficiency

Monocyte-B-Natural Killer-Dendritic Cell Deficiency Syndrome

Monocytopenia With Mycobacterial, Fungal, And Papillomavirus Infections And Myelodysplasia

Combined Immunodeficiency With Mycobacterial, Viral, And Fungal Infections

Monocyte - B - Natural Killer - Dendritic Cell Deficiency

Combined Immunodeficiency With Susceptibility To Mycobacterial Viral And Fungal Infections

Dendritic Cell Monocyte Lymphocyte B And Natural Killer Lymphocyte Deficiency

Monocytopenia With Susceptibility To Mycobacterial Fungal And Papillomavirus Infections And Myelodysplasia

Severe Congenital Neutropenia

Congenital Neutropenia

Neutropenia, Severe Congenital

Congenital Agranulocytosis

Infantile Genetic Agranulocytosis

Kostmann Disease

Kostmann'S Agranulocytosis

Kostmann'S Syndrome

Severe Infantile Genetic Neutropenia

Dyskeratosis Congenita

Dyskeratosis Congenita Autosomal Dominant

Dc

Dkc

Zinsser-Engman-Cole Syndrome

Dyskeratosis Congenita, Autosomal Dominant

Autosomal Dominant Dyskeratosis Congenita

Dkca

Dyskeratosis Congenita Scoggins Type

Zinsser-Cole-Engman Syndrome

X-Linked Dyskeratosis Congenita

Hoyeraal-Hreidarsson Syndrome

Diamond-Blackfan Anemia

Congenital Pure Red Cell Aplasia

Aase Syndrome

Erythrogenesis Imperfecta

Anemia, Diamond-Blackfan

Congenital Hypoplastic Anemia

Aase-Smith Ii Syndrome

Bds

Blackfan-Diamond Anemia

Congenital Prca

Congenital Hypoplastic Anemia, Blackfan-Diamond Type

Dba

Blackfan - Diamond Syndrome

Chronic Constitutional Pure Red Cell Anaemia

Anemia Diamond Blackfan Type

Anemia Congenital Erythroid Hypoplastic

Aregenerative Anemia Chronic Congenital

Blackfan Diamond Syndrome

Red Cell Aplasia, Pure Hereditary

Aase-Smith Syndrome Ii

Bda

Blackfan Diamond Anemia

Blackfan-Diamond Disease

Blackfan-Diamond Syndrome

Chronic Congenital Agenerative Anemia

Congenital Erythroid Hypoplastic Anemia

Congenital Hypoplastic Anemia Of Blackfan And Diamond

Congenital Pure Red Cell Anemia

Hypoplastic Congenital Anemia

Inherited Erythroblastopenia

Pure Hereditary Red Cell Aplasia

Anemia, Hypoplastic, Congenital

Anemia Hypoplastic Congenital

Fanconi Anemia

Constitutional Aplastic Anemia

Diamond-Blackfan Anemia 1

Aase Smith Syndrome 2

Congenital Red Cell Aplasia

Red Cell Aplasia Of Infants

Pure Red Cell Aplasia Of Infants

Congenital Red Cell Aplastic Anaemia

Congenital Pure Red Cell Anaemia

Congenital Erythroid Hypoplasia

Pearson Marrow-Pancreas Syndrome

疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus SRP72 RGD RGD:1564787
Canis familiaris SRP72 VGNC VGNC:46809
Mus musculus SRP72 MGD MGI:1333795
Bos taurus SRP72 VGNC VGNC:35287
Macaca mulatta SRP72 VGNC VGNC:100273
Felis catus SRP72 VGNC VGNC:65685